Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder that causes early-age hair loss and vision loss that begins in childhood and becomes worse with time (progressive). Affected individuals are either born without hair (congenital hypotrichosis) or lose it within the first few months of life. They also have noticeable vision issues by their teenage years. In people with HJMD, the center of the back of the eye (macula), which is responsible for central vision, becomes damaged over time. Symptoms can range from blurry or dark vision in early stages to total blindness later in life. Despite the name of the disorder, this condition has the potential to affect the entire back of the eye (retina), not just the macula.
HJMD is caused by changes (mutations) in the CDH3 gene and is an autosomal recessive disorder, meaning a person needs a mutation in both of their CDH3 copies to have the condition. Although there are no specific treatments for this disorder, general vision aids may be helpful. If you or a loved one has been diagnosed with HJMD, contact your doctor to discuss the possible treatment options available. Blindness support groups can provide additional information and connect you with other families affected by juvenile-onset vision loss.